Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine‐responsive megaloblastic anemia in an Egyptian family

BACKGROUND: The Solute Carrier Family 19 Member 2 (SLC19A2, OMIM *603941) encodes the thiamine transporter 1 (THTR‐1) that brings thiamine (Vitamin B1) into cells. THTR‐1 is the only thiamine transporter expressed in bone marrow, cochlear, and pancreatic beta cells. THTR‐1 loss‐of‐function leads to...

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Detalles Bibliográficos
Autores principales: Amr, Khalda, Pawlikowska, Patrycja, Aoufouchi, Said, Rosselli, Filippo, El‐Kamah, Ghada
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625154/
https://www.ncbi.nlm.nih.gov/pubmed/31144472
http://dx.doi.org/10.1002/mgg3.777

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625154/
https://www.ncbi.nlm.nih.gov/pubmed/31144472
http://dx.doi.org/10.1002/mgg3.777

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